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Targeted therapy in patients with PIK3CA-related overgrowth syndrome.
Venot Q, Blanc T, Rabia SH, Berteloot L, Ladraa S, Duong JP, Blanc E, Johnson SC, Hoguin C, Boccara O, Sarnacki S, Boddaert N, Pannier S, Martinez F, Magassa S, Yamaguchi J, Knebelmann B, Merville P, Grenier N, Joly D, Cormier-Daire V, Michot C, Bole-Feysot C, Picard A, Soupre V, Lyonnet S, Sadoine J, Slimani L, Chaussain C, Laroche-Raynaud C, Guibaud L, Broissand C, Amiel J, Legendre C, Terzi F, Canaud G. Venot Q, et al. Nature. 2018 Jun;558(7711):540-546. doi: 10.1038/s41586-018-0217-9. Epub 2018 Jun 13. Nature. 2018. PMID: 29899452 Free PMC article. Clinical Trial.
Clinical and genetic analyses of patients with lateralized overgrowth.
Kim YM, Lee Y, Choi Y, Choi IH, Heo SH, Choi JM, Do HS, Jang JH, Yum MS, Yoo HW, Lee BH. Kim YM, et al. BMC Med Genomics. 2022 Sep 30;15(1):206. doi: 10.1186/s12920-022-01362-1. BMC Med Genomics. 2022. PMID: 36175890 Free PMC article.
METHODS: Fifteen patients with lateralized overgrowth were involved. Clinical characteristics and whole-body magnetic resonance imaging (WB-MRI) findings were evaluated. ...Propranolol could be applied as an adjuvant therapy for reducing vascular symptoms, but a PIK3CA inh …
METHODS: Fifteen patients with lateralized overgrowth were involved. Clinical characteristics and whole-body magnetic resonance imagi …
Alpelisib to treat CLOVES syndrome, a member of the PIK3CA-related overgrowth syndrome spectrum.
Garreta Fontelles G, Pardo Pastor J, Grande Moreillo C. Garreta Fontelles G, et al. Br J Clin Pharmacol. 2022 Aug;88(8):3891-3895. doi: 10.1111/bcp.15270. Epub 2022 Feb 21. Br J Clin Pharmacol. 2022. PMID: 35146800 Free article.
CLOVES syndrome is a rare congenital overgrowth disorder caused by mutations in the phosphatidylinositol 3-kinase catalytic subunit alpha (PIK3CA) gene. It is part of the PIK3CA-related overgrowth syndrome (PROS) spectrum and its treatment is challengi …
CLOVES syndrome is a rare congenital overgrowth disorder caused by mutations in the phosphatidylinositol 3-kinase catalytic subunit alpha (P …
Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome.
Forde K, Resta N, Ranieri C, Rea D, Kubassova O, Hinton M, Andrews KA, Semple R, Irvine AD, Dvorakova V. Forde K, et al. Orphanet J Rare Dis. 2021 Feb 27;16(1):109. doi: 10.1186/s13023-021-01745-0. Orphanet J Rare Dis. 2021. PMID: 33639990 Free PMC article. Clinical Trial.
CONCLUSION: We report the first paediatric case series of the use of miransertib in two children with PROS. Objective clinical response was observed in patient one, and improvement in key qualitative outcomes was reported in patient two. ...
CONCLUSION: We report the first paediatric case series of the use of miransertib in two children with PROS. Objective clinical respon …